NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
NM_001148.6(ANK2):c.3796+18G>A
|
rs66792339
|
0.02360
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000383.4(AIRE):c.652+14C>T
|
rs41277546
|
0.01242
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_000383.4(AIRE):c.1279-18C>T
|
rs72650678
|
0.00839
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
FIBRINOGEN PARIS 1
|
rs2066862
|
0.00546
|
NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)
|
rs151098394
|
0.00465
|
NM_032588.4(TRIM63):c.*2G>A
|
rs77965623
|
0.00441
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)
|
rs138281308
|
0.00302
|
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)
|
rs28362286
|
0.00262
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)
|
rs121913212
|
0.00235
|
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu)
|
rs149879954
|
0.00221
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)
|
rs55824996
|
0.00198
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_016653.3(MAP3K20):c.744+9A>G
|
rs148211031
|
0.00181
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
NM_001025356.3(ANO6):c.1274G>A (p.Arg425Gln)
|
rs142960268
|
0.00170
|
NM_030777.4(SLC2A10):c.-15C>T
|
rs377142129
|
0.00166
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile)
|
rs11574115
|
0.00159
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)
|
rs6138
|
0.00124
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_015713.5(RRM2B):c.48+96G>C
|
rs200373694
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser)
|
rs145105421
|
0.00096
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn)
|
rs61732021
|
0.00094
|
NM_001710.6(CFB):c.837C>G (p.Asp279Glu)
|
rs147564718
|
0.00092
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_005534.4(IFNGR2):c.879+19del
|
rs193922682
|
0.00070
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)
|
rs199794705
|
0.00069
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_001625.4(AK2):c.614G>A (p.Gly205Glu)
|
rs202182972
|
0.00065
|
NM_000397.4(CYBB):c.338-13C>T
|
rs193922447
|
0.00064
|
NM_001126108.2(SLC12A3):c.2285+8G>A
|
rs199854613
|
0.00061
|
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val)
|
rs767058690
|
0.00061
|
NM_000237.3(LPL):c.542-8C>T
|
rs201634558
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_005502.4(ABCA1):c.5636+18A>C
|
rs111671370
|
0.00056
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)
|
rs144703247
|
0.00048
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)
|
rs148114532
|
0.00039
|
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)
|
rs149871856
|
0.00038
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
NM_001267550.2(TTN):c.8902+16T>A
|
rs66507451
|
0.00032
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val)
|
rs532112751
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)
|
rs200996196
|
0.00019
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)
|
rs201664019
|
0.00017
|
NM_000251.3(MSH2):c.1276+16G>A
|
rs368120695
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_001148.6(ANK2):c.11032+19A>G
|
rs200769962
|
0.00016
|
NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn)
|
rs373607825
|
0.00016
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
NM_001267550.2(TTN):c.21962-6C>T
|
rs374870814
|
0.00014
|
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)
|
rs141440715
|
0.00014
|
NM_139027.6(ADAMTS13):c.539+7G>A
|
rs184864675
|
0.00014
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)
|
rs369925361
|
0.00012
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
NM_000251.3(MSH2):c.1387-4G>C
|
rs376796243
|
0.00011
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00011
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)
|
rs398123531
|
0.00009
|
NM_000518.5(HBB):c.316-179A>C
|
rs185607297
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)
|
rs56191073
|
0.00009
|
NM_000251.3(MSH2):c.1662-10C>T
|
rs752606387
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln)
|
rs564049659
|
0.00007
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000493.4(COL10A1):c.737T>C (p.Ile246Thr)
|
rs764388204
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys)
|
rs573971701
|
0.00006
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.631+18G>A
|
rs759965817
|
0.00004
|
NM_000410.4(HFE):c.175G>A (p.Val59Met)
|
rs111033557
|
0.00004
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
NM_002294.3(LAMP2):c.-7C>T
|
rs762305947
|
0.00004
|
NM_002485.5(NBN):c.-10A>T
|
rs759094270
|
0.00004
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
NM_018668.5(VPS33B):c.1170+5G>A
|
rs201431055
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser)
|
rs757653472
|
0.00004
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)
|
rs373394254
|
0.00003
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)
|
rs148516831
|
0.00003
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
NM_024675.4(PALB2):c.108+12G>A
|
rs558824045
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
|
rs547076322
|
0.00003
|
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)
|
rs201797422
|
0.00002
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=)
|
rs778871932
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_001148.6(ANK2):c.10646G>A (p.Arg3549His)
|
rs768351547
|
0.00002
|
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val)
|
rs531261130
|
0.00002
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
NM_007294.4(BRCA1):c.*20C>T
|
rs375042815
|
0.00002
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
rs80358530
|
0.00001
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
NM_000059.4(BRCA2):c.7805+11C>A
|
rs1060504610
|
0.00001
|
NM_000059.4(BRCA2):c.7805+8A>G
|
rs81002847
|
0.00001
|
NM_000059.4(BRCA2):c.7806-6del
|
rs764374133
|
0.00001
|
NM_000059.4(BRCA2):c.8331+14C>T
|
rs1287378096
|
0.00001
|
NM_000059.4(BRCA2):c.8332-6G>T
|
rs587780872
|
0.00001
|
NM_000059.4(BRCA2):c.8632+14T>C
|
rs730881596
|
0.00001
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000535.7(PMS2):c.804-15A>G
|
rs1448706115
|
0.00001
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)
|
rs876659731
|
0.00001
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
0.00001
|
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)
|
rs552179138
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu)
|
rs199743500
|
0.00001
|
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg)
|
rs757416132
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser)
|
rs2072285447
|
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
rs786203080
|
|
NM_000059.4(BRCA2):c.516+17G>T
|
rs765435155
|
|
NM_000059.4(BRCA2):c.6842-14A>T
|
rs81002821
|
|
NM_000059.4(BRCA2):c.6937+13T>G
|
rs587780868
|
|
NM_000059.4(BRCA2):c.9257-10del
|
rs276174919
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000237.3(LPL):c.213C>G (p.His71Gln)
|
rs11542065
|
|
NM_000237.3(LPL):c.89-10del
|
rs547644955
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)
|
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000381.4(MID1):c.778G>A (p.Ala260Thr)
|
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)
|
rs34726542
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
NM_000535.7(PMS2):c.2446-19C>T
|
rs1390101876
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)
|
rs368366214
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys)
|
rs139862860
|
|
NM_001025356.3(ANO6):c.1880+17A>G
|
|
|
NM_001025356.3(ANO6):c.2107G>T (p.Ala703Ser)
|
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
NM_001148.6(ANK2):c.11032+17G>A
|
rs587780853
|
|
NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)
|
|
|
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
|
|
|
NM_001370259.2(MEN1):c.654+18C>T
|
rs180737290
|
|
NM_001378418.1(TCF20):c.4387G>A (p.Ala1463Thr)
|
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
NM_001807.6(CEL):c.1974del (p.Val659fs)
|
rs1341981506
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
NM_002878.4(RAD51D):c.904-12TTC[2]
|
rs779850240
|
|
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)
|
rs34391522
|
|
NM_004360.5(CDH1):c.1711+9G>C
|
rs368770384
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)
|
rs11466445
|
|
NM_004859.4(CLTC):c.2562-6dup
|
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)
|
|
|
NM_005502.4(ABCA1):c.3104-5dup
|
rs746119307
|
|
NM_005502.4(ABCA1):c.4464+12T>C
|
|
|
NM_005502.4(ABCA1):c.721-10del
|
|
|
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
|
|
|
NM_006506.5(RASA2):c.684+15dup
|
rs769572165
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007294.4(BRCA1):c.135-20T>G
|
rs80358025
|
|
NM_012062.5(DNM1L):c.251-5dup
|
rs1188011409
|
|
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)
|
rs36029384
|
|
NM_014225.6(PPP2R1A):c.1547T>C (p.Ile516Thr)
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)
|
rs144919978
|
|
NM_015909.4(NBAS):c.1361C>G (p.Pro454Arg)
|
|
|
NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)
|
|
|
NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu)
|
|
|
NM_019842.4(KCNQ5):c.1358C>T (p.Thr453Ile)
|
rs2150457602
|
|
NM_020778.5(ALPK3):c.423-19del
|
rs537375112
|
|
NM_021628.3(ALOXE3):c.1559_1562+3dup
|
rs552323537
|
|
NM_022437.3(ABCG8):c.1756+16G>A
|
|
|
NM_024675.4(PALB2):c.3202-8G>A
|
rs367979106
|
|
NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.508-8G>A
|
rs202074040
|
|
NM_032387.5(WNK4):c.3593G>A (p.Arg1198His)
|
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)
|
|
|
NM_174936.4(PCSK9):c.522C>T (p.Pro174=)
|
rs373018373
|
|